2 girls hand in hand

Rare Diseases

Rare diseases affect small groups of patients and are often life-threatening or causing chronic disability. In total there are about 7,000 known rare diseases but only about 400 approved treatments.

Examples of serious or life-threatening rare illnesses include haemophilia, malignant melanoma, essential thrombocythaemia, soft tissue sarcoma, ovarian cancer and are metabolic disorders such as hereditary tyrosinaemia type I and insufficiency of the urea cycle.


In the EU a rare disease is defined as one that affects less than 1 of 2,000 people (or 0.05% of the population). In the US, rare diseases are defined as those that affect fewer than 200,000 people.